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Rare Bone Diseases and Their Dental,Oral,and Craniofacial Manifestations
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نویسنده
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foster b.l. ,ramnitz m.s. ,gafni r.i. ,burke a.b. ,boyce a.m. ,lee j.s. ,wright j.t. ,akintoye s.o. ,somerman m.j. ,collins m.t.
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منبع
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journal of dental research - 2014 - دوره : 93 - شماره : 7_suppl - صفحه:7S -19S
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چکیده
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Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. though many of these conditions are individually rare,the total number of people affected is great. these disorders often include dental-oral-craniofacial (doc) manifestations,but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. in this review,we focus on dental,oral,and craniofacial manifestations of rare bone diseases. discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and doc complex: progenitor cell differentiation (fibrous dysplasia),extracellular matrix production (osteogenesis imperfecta),mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome,hypophosphatemic rickets,and hypophosphatasia),and bone resorption (gorham-stout disease). for each condition,we highlight causative mutations (when known),etiopathology in the skeleton and doc complex,and treatments. by understanding how these 4 foci are subverted to cause disease,we aim to improve the identification of genetic,molecular,and/or biologic causes,diagnoses,and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. © 2014,international & american associations for dental research. all rights reserved.
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کلیدواژه
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familial hypophosphatemic rickets; fibrous dysplasia of bone; Gorham-Stout disease; hyperphosphatemic familial tumoral calcinosis; hypophosphatasia; osteogenesis imperfecta
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آدرس
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national institute for arthritis and musculoskeletal,skin diseases,national institutes of health,bethesda,md 20892, United States, national institute of child health,human development,national institutes of health,bethesda,md 20892, United States, skeletal clinical studies unit,craniofacial and skeletal diseases branch,national institute of dental and craniofacial research,national institutes of health,bethesda,md, United States, skeletal clinical studies unit,craniofacial and skeletal diseases branch,national institute of dental and craniofacial research,national institutes of health,bethesda,md, United States, skeletal clinical studies unit,craniofacial and skeletal diseases branch,national institute of dental and craniofacial research,national institutes of health,bethesda,md,united states,bone health program,division of orthopedics and sports medicine,children's national medical center,washington,dc,united states,division of endocrinology and diabetes,children's national medical center,washington,dc, United States, office of clinical director,national institute of dental and craniofacial research,national institutes of health,bethesda,md, United States, department of pediatric dentistry,school of dentistry,university of north carolina,chapel hill,nc 27599, United States, department of oral medicine,school of dental medicine,university of pennsylvania,philadelphia,pa, United States, national institute for arthritis and musculoskeletal,skin diseases,national institutes of health,bethesda,md 20892,united states,national institute of dental and craniofacial research,national institutes of health,bethesda,md, United States, skeletal clinical studies unit,craniofacial and skeletal diseases branch,national institute of dental and craniofacial research,national institutes of health,bethesda,md, United States
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Authors
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